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PubMed2002

[Pituitary adenoma associated with neurofibromatosis type 1: case report].

A case of pituitary adenoma associated is neurofibromatosis type 1 is reported. On June 6, 2000, a 49-year-old man was admitted to the Department of Neurological Surgery, Okayama University Hospital, for bitemporal hemianopsia. Twenty-nine years previously, he had been operated on for a left inguinal tumor that proved to be a neurofibroma. Based on the presence of other manifestations, such as café-au-lait spots and subcutaneous nodules, he had been diagnosed with neurofibromatosis type 1, the same as his father, sister, and daughter. Computed tomography and magnetic resonance imaging demonstrated an intrasellar mass lesion with a cystic portion in the suprasellar region. Endocrinologically, almost all of his basic hormone levels were normal. A right front-temporal craniotomy was performed for a preoperative diagnosis of craniopharyngioma, and total intracapsular tumor extirpation was achieved. The histological diagnosis was clinically silent corticotroph pituitary adenoma. Neurofibromatosis is sometimes associated with neoplasms of the central nervous system, usually optic gliomas. Associations between pituitary adenomas and NF 1 are very rare and have been reported in only four cases, including the present case.

Adenoma↗
PubMedDate not supplied

Laryngeal neurofibroma associated with neurofibromatosis type 2.

We present a case of laryngeal neurofibroma associated with neurofibromatosis type 2. Although laryngeal neurofibromas have previously been reported in cases of neurofibromatosis type 1, their presence has never been described in a patient with neurofibromatosis type 2.

Adult↗
PubMed2002

Rapid growth of acoustic neuromas after stereotactic radiotherapy in type 2 neurofibromatosis.

We describe a rare complication of stereotactic radiotherapy for large acoustic neuromas in a patient with type 2 neurofibromatosis. We retrospectively reviewed the case of a 14-year-old girl who had been referred to our tertiary care center. Prior to referral, the patient had been evaluated for hoarseness. During the work-up, magnetic resonance imaging (MRI) detected two large bilateral acoustic neuromas and two bilateral jugular foramen tumors. The patient was diagnosed with type 2 neurofibromatosis, and she underwent stereotactic radiotherapy for treatment of the two acoustic neuromas; the jugular foramen tumors were not irradiated. The patient's post-treatment course was complicated by hydrocephalus and symptoms of brainstem compression, which required urgent surgical intervention. Follow-up MRI 7 months following radiotherapy demonstrated a rapid growth of the acoustic neuromas, but no appreciable change in the size of the jugular foramen neuromas. These findings suggest that the radiotherapy might have been the cause of the rapid growth of the acoustic neuromas. To our knowledge, no such report has been published in the literature, and this phenomenon might be unique. Our findings suggest that radiotherapy might not be the optimal first-line treatment for acoustic neuromas in patients with type 2 neurofibromatosis.

Adolescent↗
PubMed2003

[MR spectroscopy in the differential diagnosis of focal brain lesions in neurofibromatosis type 1 patients].

PURPOSE: To determine the role of MR spectroscopy in the differential diagnosis of focal brain lesions in neurofibromatosis type 1. MATERIALS AND METHODS: Fifteen patients with neurofibromatosis type 1 were evaluated by routine MRI and single voxel MR spectroscopy (TE: 31). The posterior parietal white matter of 20 age-matched healthy volunteers constituted the control group. NAA/Cr, Cho/Cr and MI/Cr ratios were calculated and compared with the control group. RESULTS: A total of 58 focal brain lesions were detected by MR imaging. When patients with hamartomas and gliomas were compared with the control group, a decrease in the NAA/Cr ratio, and a significant increase in Cho/Cr and MI/Cr ratios were found. The decrease in the NAA/Cr ratio and the increase in Cho/Cr and MI/Cr ratios of gliomas were significant when compared with hamartomas. With MRI and MR spectroscopy findings, 52 hamartomas and 6 gliomas were detected. CONCLUSION: Since MR spectroscopy has the ability to detect cellular metabolic changes, it could provide additional information to MR imaging about the differential diagnosis and treatment planning of focal parenchymal lesions in neurofibromatosis type 1.

Adolescent↗
PubMedDate not supplied

Cutaneous melanoma with neurofibromatosis type 1: rare association? A case report and review of the literature.

Neurofibromatosis (NF) is a relatively common disorder characterized by cutaneous pigmented maculas, multiple neurofibromas and Lisch nodules (pigmented iris hamartomas). This disorder is retained being a neurocristopathy. Melanocytes are neural crest derivates too. Twenty-six patients with neurofibromatosis associated to cutaneous malignant melanoma have been reported till now, but data on association between these two pathologies are lacking. One more case of malignant cutaneous melanoma in a patient with neurofibromatosis is reported and the hypothesis of a more frequent association than usually believed of these two pathologies is discussed.

Humans↗
PubMed1992

Unusual orthopedic manifestations of neurofibromatosis.

Forty-four children with neurofibromatosis were found to have three previously underdescribed conditions: thoracic lordoscoliosis, protrusio acetabuli, and monomelia neurofibromatosis. Thirty-four patients (77%) had scoliosis; of these, nine had dystrophic scoliosis (Group I, 26%), six had dystrophic lordoscoliosis (Group II, 18%), eight had dystrophic kyphoscoliosis (Group III, 24%), and 11 had nondystrophic scoliosis (Group IV, 32%). Group III curves were severe and progressive, rendering them difficult to stabilize even with anterior and posterior spinal fusions. Group II curves were progressive but stabilized by posterior spinal fusion alone. Group I curves were less progressive than Groups II and III, but required surgery more often than those of Group IV, which were generally controlled by orthoses. Protrusio acetabuli of varying severity occurred in 13 patients (21 hips). Three patients had involvement of a single limb (monomelic neurofibromatosis).

Acetabulum↗
PubMed2005

Neurofibromatosis type 2-living with the complications: a case study.

Neurofibromatosis is a disease caused by a chromosomal defect that can occur spontaneously or be inherited. The disease is grossly disfiguring and carries with it significant psychological sequelae. It is characterized by tumors on nerve sheaths that can arise anywhere in the body. The rate and frequency of occurrence is unpredictable. More than nine different types of neurofibromatosis have been identified, but other than types 1 and 2, they are quite rare. All types of neurofibromatosis persist for a lifetime, so nurses from different backgrounds may encounter such a patient for various reasons. Nursing care should focus not only on the medical issues the patient presents with, but also on the psychosocial needs that may arise.

Activities of Daily Living↗
PubMed2005

Neurofibrosarcoma - complicating neurofibromatosis-I: case report and review of relevant literature.

SUMMARY: Neurofibromatosis I is a multi systemic genetic and progressive disorder. Malignancy is one of the several complications and frequency of neurofibrosarcoma is significantly higher in NF-I patients. Neurofibromatosis was noted at 2 years after birth and overtime became malignant for which a below the knee amputation was done at the age of 29 years. Malignant transformation probably occurred prior to excision of the tumour at 26 years. Recurrence within 18 months is suggestive of inadequate excision and of a slow growing tumour. Diagnosis was missed despite previous presentation to other hospitals. This case presentation and review of literature highlights the need for early diagnosis and follow up, education of the patients and their families and the need for histological diagnosis for lesion removed to achieve overall improvement in morbidity and mortality. KEYWORDS: neurofibromatosis I, neurofibrosarcoma.

Humans↗
PubMed1991

[Neurofibromatosis--new clinical and molecular genetic aspects].

Neurofibromatosis is not a single entity. Seven types of the disorder are now known, which can be differentiated by clinical and genetic features. The wide variety of clinical manifestations makes close interdisciplinary cooperation necessary, in which the dermatologist frequently has a key role. The most frequent forms are peripheral neurofibromatosis (NF1) and central neurofibromatosis (NF2), for which separate gene localizations have been found on chromosomes 17 and 22, respectively, by molecular genetics techniques. The meanwhile possible prenatal diagnosis raises ethical questions.

Chromosomes, Human, Pair 17↗
PubMed2006

Neurofibromatosis type 1 and masses of the appendix: a case report.

BACKGROUND: Neurofibromatosis type 1 is an autosomal dominant disease with high penetrance, affecting 1:3,000 pregnancies. Meningiomas and other benign central nervous system tumors, such as ependymomas, are common features. CASE: A patient with neurofibromatosis underwent cesarean section due to intrauterine growth restriction and nonreassuring fetal heart rate patterns. Examination of the abdominal cavity and intestines revealed a large (diameter, 12 cm), rubbery, fibrin-coated appendicular mass. The appendix was removed, and pathologic analysis confirmed the diagnosis of neuroma of the appendix. CONCLUSION: The case stresses the importance of careful inspection and evaluation of the abdominal cavity during surgery on patients with neurofibromatosis for the detection of possible associated masses.

Adult↗
PubMed1991

Chronic lymphocytic leukemia associated with von Recklinghausen neurofibromatosis.

We report a 62-year-old female, with von Recklinghausen neurofibromatosis and chronic lymphocytic leukemia, whose mother and son both had neurofibromatosis and died of digestive tract cancers. The patient died of pneumonia 3 years after the initiation of therapy. Leukemia reported in association with neurofibromatosis are predominantly nonlymphocytic and limited to childhood. The type of association found in our patient has not been reported previously.

Female↗
PubMed1991

[Segmental neurofibromatosis and germ-line mosaicism].

Segmental neurofibromatosis, also designated "NF-V" according to Riccardi's classification, should be considered a mosaic manifestation of one of the other types of neurofibromatosis, mostly of NF-I. Irrespective of the site and size of the body area affected, the patients are always at risk of germ-line mosaicism and they may therefore transmit the phenotype, but not the mosaic, to the next generation. Hence it follows that segmental neurofibromatosis does not constitute a distinct entity, and it is not reasonable to discriminate unilateral from bilateral or "hereditary" from "nonhereditary" forms.

Germ Cells↗
PubMed1991

[Bilateral segmental neurofibromatosis].

Segmental neurofibromatosis is a rare type of neurofibromatosis. We report a case of bilateral manifestation, review the literature on this extremely uncommon variant, and discuss the possible causative mechanisms and the genetic risk of segmental neurofibromatosis.

Adolescent↗
PubMed1991

[Multiple nerve root tumors and neurofibromatosis: contribution of magnetic resonance imaging].

Three patients (two females and one male) with radiculospinal neurologic involvement secondary to different forms of neurofibromatosis are reported. The first two met the diagnostic criteria for NF-1, although case 2 had a posterior fossa meningioma, which is an uncommon finding in this group. The male patient had an apparently sporadic NF-2, with bilateral acoustic nerve neurinoma, multiple meningioma, multiple radicular neurinoma and an intraspinal tumor apparent in magnetic resonance imaging. In the three cases the whole central nervous system was evaluated with gadolinium-enhanced magnetic resonance imaging. A great number of radicular tumors, many of which were asymptomatic, were detected. In spite of the severity of the clinical features, the three patients showed a dramatic improvement after the surgical removal of the symptomatic tumors. The use of magnetic resonance is encouraged, owing to its high resolution and safety, for the assessment of incidence, character and localization of tumors in neurofibromatosis and to establish a good clinico-lesional correlation before surgery. This technique may help to a better understanding of the spectrum of abnormalities in each type of neurofibromatosis, thus facilitating the evaluation of this complex condition.

Adult↗
PubMed1991

[Neurofibromatosis and a tumor of Vater's papilla].

A male aged 57 is reported with neurofibromatosis presenting with a tumour in the periampullary region. Pathologic examination revealed a neuroendocrine tumour of the carcinoid type. A review of the literature suggests that neurofibromatosis patients are at significant risk for developing a periampullary tumour which is nearly always of neuroectodermal origin. To date, surgical excision is the only curative therapy. Therefore, early diagnosis is of major importance. In all patients with neurofibromatosis presenting with jaundice, gastrointestinal bleeding or abdominal pain, a periampullary tumour should be considered. A review is presented of the latest developments concerning the DNA-based mutation causing this disorder. In family members, DNA linkage studies should be carried out, and they should be periodically screened, e.g. with gastroduodenoscopy.

Ampulla of Vater↗
PubMedDate not supplied

Lisch nodules in neurofibromatosis.

Neurofibromatosis is an autosomal dominant disease with multiple systemic and ocular signs and features. The ocular manifestations of neurofibromatosis include a high incidence of iris hamartomas (Lisch nodules), choroidal hamartomas, and eye lid neurofibromas. Other ocular features may include conjunctival neurofibromas, prominent corneal nerves, glial tissue overlying the optic nerve, and bilateral optic atrophy due to optic glioma. Once neurofibromatosis is diagnosed, patients must have long-term ophthalmic evaluations throughout their lifetime, as this is a progressive systemic and ocular disease.

Adolescent↗
PubMedDate not supplied

[Neurofibromatosis and stenosis of the aqueduct of Sylvius. A magnetic resonance assessment].

Von Recklinghausen's neurofibromatosis is an autosomal dominant disease involving peripheral nerves and central nervous system. Obstructive hydrocephalus in this disease represents a common finding when it is due to the development of infratentorial neoplasm. Nevertheless, the occurrence of isolated nonneoplastic aqueductal stenosis in patients affected by neurofibromatosis has been described rarely. The authors report two cases of primary nontumoral aqueductal stenosis associated with Von Recklinghausen's disease who were diagnosed by CT scan and MRI. The pathogenesis of aqueductal narrowing in neurofibromatosis is discussed.

Adult↗
PubMed1990

Multiple cutaneous granular cell tumors and neurofibromatosis in childhood. A case report and review of the literature.

Multiple cutaneous granular cell tumors have been previously reported in only 26 children or adolescents. An association of these tumors with neurofibromatosis has never been reported previously. We describe a 12-year-old black girl with multiple cutaneous granular cell tumors and neurofibromatosis. Although the histogenesis of these tumors is not completely clear, the findings of ultrastructural and immunohistochemical evaluation of our patient's tumors and the associated neurofibromatosis support a neural crest origin for granular cell tumors.

Child↗